Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association

Am J Med Genet A. 2010 Nov;152A(11):2919-23. doi: 10.1002/ajmg.a.33718.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anal Canal / abnormalities
  • Base Sequence
  • Cytoskeletal Proteins / genetics*
  • Esophagus / abnormalities
  • Female
  • Gene Dosage / genetics
  • Haploinsufficiency / genetics*
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Introns / genetics
  • Kidney / abnormalities
  • LIM Domain Proteins
  • Limb Deformities, Congenital / complications
  • Limb Deformities, Congenital / genetics
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Sequence Deletion
  • Spine / abnormalities
  • Tetralogy of Fallot / complications*
  • Tetralogy of Fallot / genetics*
  • Trachea / abnormalities

Substances

  • Cytoskeletal Proteins
  • LIM Domain Proteins
  • LPP protein, human

Supplementary concepts

  • VACTERL association